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rs878853165

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs878853165(C;T)
Make rs878853165(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position12843558
GeneMAST1
is asnp
is mentioned by
dbSNPrs878853165
ebirs878853165
HLIrs878853165
Exacrs878853165
Varsomers878853165
Maprs878853165
PheGenIrs878853165
hapmaprs878853165
1000 genomesrs878853165
hgdprs878853165
ensemblrs878853165
gopubmedrs878853165
geneviewrs878853165
scholarrs878853165
googlers878853165
pharmgkbrs878853165
gwascentralrs878853165
openSNPrs878853165
23andMers878853165
23andMe allrs878853165
SNP Nexus

SNPshotrs878853165
SNPdbers878853165
MSV3drs878853165
GWAS Ctlgrs878853165
Max Magnitude0
ClinVar
Risk rs878853165(T;T)
Alt rs878853165(T;T)
Reference Rs878853165(C;C)
Significance Probable-Pathogenic
Disease Abnormal facial shape Autistic behavior Delayed speech and language development Intellectual disability (moderate) Muscular hypotonia
Variation info
Gene MAST1
CLNDBN Abnormal facial shape Autistic behavior Delayed speech and language development Intellectual disability (moderate) Muscular hypotonia
Reversed 0
HGVS NC_000019.9:g.12954372C>T
CLNSRC
CLNACC RCV000224975.1,